F18I (p.Phe18Ile) variant of DES (Desmin)
F18I (p.Phe18Ile) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F18I (p.Phe18Ile) variant details
- p.Phe18Ile
- gnomAD 2-219418514-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.82
- CADD 24.90
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available